MCID: ATY025
MIFTS: 15

Atypical Glycine Encephalopathy

Categories: Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Atypical Glycine Encephalopathy

MalaCards integrated aliases for Atypical Glycine Encephalopathy:

Name: Atypical Glycine Encephalopathy 59
Atypical Non-Ketotic Hyperglycinemia 59
Atypical Nka 59

Characteristics:

Orphanet epidemiological data:

59
atypical glycine encephalopathy
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:



External Ids:

ICD10 via Orphanet 34 E72.5
Orphanet 59 ORPHA289863

Summaries for Atypical Glycine Encephalopathy

MalaCards based summary : Atypical Glycine Encephalopathy, also known as atypical non-ketotic hyperglycinemia, is related to glycine encephalopathy and west syndrome. An important gene associated with Atypical Glycine Encephalopathy is GCSH (Glycine Cleavage System Protein H), and among its related pathways/superpathways are Carbon metabolism and Glycine, serine and threonine metabolism.

Related Diseases for Atypical Glycine Encephalopathy

Diseases related to Atypical Glycine Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 27.0 SLC6A9 GLDC GCSH AMT
2 west syndrome 9.9
3 encephalopathy 9.9

Symptoms & Phenotypes for Atypical Glycine Encephalopathy

Drugs & Therapeutics for Atypical Glycine Encephalopathy

Search Clinical Trials , NIH Clinical Center for Atypical Glycine Encephalopathy

Genetic Tests for Atypical Glycine Encephalopathy

Anatomical Context for Atypical Glycine Encephalopathy

Publications for Atypical Glycine Encephalopathy

Articles related to Atypical Glycine Encephalopathy:

# Title Authors PMID Year
1
Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. 38
19299230 2009

Variations for Atypical Glycine Encephalopathy

Expression for Atypical Glycine Encephalopathy

Search GEO for disease gene expression data for Atypical Glycine Encephalopathy.

Pathways for Atypical Glycine Encephalopathy

GO Terms for Atypical Glycine Encephalopathy

Cellular components related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 GLDC GCSH AMT
2 mitochondrial matrix GO:0005759 9.13 GLDC GCSH AMT
3 glycine cleavage complex GO:0005960 8.62 GLDC GCSH

Biological processes related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.16 GCSH AMT
2 glycine decarboxylation via glycine cleavage system GO:0019464 9.13 GLDC GCSH AMT
3 glycine catabolic process GO:0006546 8.8 GLDC GCSH AMT

Molecular functions related to Atypical Glycine Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminomethyltransferase activity GO:0004047 8.62 GCSH AMT

Sources for Atypical Glycine Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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